Special

HsaINT0124460 @ hg38

Intron Retention

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128927038-128933857:+
Coord C1 exon
chr9:128927038-128927196
Coord A exon
chr9:128927197-128933781
Coord C2 exon
chr9:128933782-128933857
Length
6585 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
3' ss Seq
CTGATGTCCCCTTTCCACAGGGC
3' ss Score
11.55
Exon sequences
Seq C1 exon
TTCCAACAGGATGGATTCCTGGTGCTGGAAGGATTCTTGTCTGCGGAAGAGTGTGTGGCCATGCAACAAAGGATTGGCGAGATAGTGGCTGAAATGGATGTTCCTCTCCACTGCCGCACAGAATTCTCCACCCAGGAAGAGGAGCAGCTTCGAGCCCAG
Seq A exon
GTAGGTGTCTGGGGCACATGAGGATGGGATGTGGCTTTTGAGGGAGGGCTTGGTCCCCGGCCAGAGCAGCATCGTGGAAGGGAGGATCCCAAGGCTCCAGGGTGTCAGGCCAAGCCCCTTACACACCTTTCCCTCGCTCCTCACTGGGAAGTTATCAAGTAGGCTTTATTGTCCTTTTTTTTTTTCTTTTTTCTTTTAAAACAGAATCTCACTCTGTTGCTCAGTCTGGAATTCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCACTTACAGGCATGCGCCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCCAGGTGATCCACCAGCCTCAGTCTCCCAAAGTGCTGAAATTACAGGCTATTATTATCCCCCCATTAGACAGTTGGGGAAAATTAGGTTCAGATCACTTGCCCCAAGCCACACAGTTAGTAGTGGACAGAGTCAGGATTTCAACCCAGATCTGTCTGATACCAAGTCCCTGCTGTTCCCAGCTTGGCTTTACTTTCTGTTTTCCGGCTGTTCTCTGGTCACCGAAGGCCACTTTGTGGCCAGCCACCTGGAATGAGCACAGTGGTCTGGATGACCCCCACCTGTGTAACTATCCCCCATGAGACTAGGAACTCAGATTTTCTCCCCCCAGTGACCGAATAGGTCACATGATAGGACCCAGTACAGTTTGCAATGGGTAAATTGAAGACTCTGGGGTCTCCCACACCGTTCTCTTGACCCTTCCTAGTCAGAGTTTATTATGAGCCTGCTTGCGCCTGGGCCAGGTGAGATCCTGGCACTCACGCCGAGGAGCACCTGCCATCTGGTGGGCATTAGCAGAAATACAACAGCCGGAAGCCATCCCAGGGAATGGGAAGAATGGGGTCTTGAGAAGGAAAAAGAACCAGTTAAGGAATGACAGTTTCTTCCAAAAAGCTGGTCTCATTTGCTGCACAGCTGCCTTCCATTCGGGGGGATACTGGGGGAAGCAGAGACAGCTCCTGCAGCCAGAGACAGGCAGGCCACTCAAGGGTTCCTAGGAGTAAGAAGGGCCGAATCCTGTGCCCTCCAAGCTGCCTTCAGAGACTAATGGGTTGTGGGGTGGGAAGAAAGTGAGAATAAAGCTGATATATTGGCCGGGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCCAGGTGATGCATACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGAATCCTGTCTCAAAAAAAAACAAAAACAAAAACAAAAAACTGATATATCTTGGTTTATAATGCATGCAAAGAAAAGAGCTTGGCATGGTGCCCAGCACTCAGTAACATCCTCAATATTCACTCTTGATACTGTGAGAAAAAAAAAGATCAGTGGGCGTCCTGTTTCATTTTCTTGGGTTACCTCCAGCTTTCCTTGTTTGAGTTATTTTACAACACTGTAAGTTGGATAAAACTGATAATAATGCACATGATACTTGTCCAAGTAGGGGGTCAGTACCACTCTGTTCCAATCACGTTACCATGAACTGGGTCCTGGGGAATGCAATTATTGCCCTGTGGATAGAACAGTTGGGCAGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGCAGGGAGGATCGCTTGAGCCCAGGAATTCGCAAACAGCCTGGTCAACAAAGTGAGACCTGTCTCTACAAAAAAATTTTTTTAAATTAGCTGGGCATGGTGGTATATGCCTGTGGTCCCAGCTACATGGGAGGCTGAGGCAGAAGGATCACTTGGGGCCAGGAGGTTGAGGCTGCAGTGAGCTATAATCATGCCACTGCACTCCAGTCTGGGTGGGTGATAAAGAAAGACCCTGTCTCAAAAAAACAAAACAAAACAAAAAACAGTTTGCATCTATCTCTAAATTCATTTCAAGGGCCAGGAGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCTGAAACAGGCAGATCGCTGGAGGTCAAGGGTTCAAGACTAGCCTAGGGAACATGGTGAAACCCGGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCGCCGGCGGTCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATCGCCTGAACCCTGAAGGGAGAGTTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCTATCTCAAAAAAAAAAAAATTCATTTCAGTTTCCTTAGTATCTACATACGTGTGTGTGTAATTCTTGGAATTCTCCTTTGAACCAGTTGTAACATCTTACTGGTTCCCTCATGAAATAACGAATTCAGTAAAATATTTGACATATGCTTAGCATCATTACCTTTAATATTTTTACCATCCAGGCATGGTGGCTCAAGCCTATAATCCTAGCACTTTGCAAGGCCAAGGCAGTGGACAAATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAAAAAAAAAAATTAGTCGTGGCCGGGCATGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGCCCAGGAGTTCAACACCAGCCTGAGCAACATGGCAAAACCCCATCTCTACCAAAAATCCAAGAAAATTAGTTGAGAGTGGTGATGCACGTGTGTAATCCTGGCTACTTGGGAGGCTGAGACAGGAGGATAGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGGACTCCAGCCTGGGGGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAATTAGGCATGGTGGTGTGAACTTGTAGTTCTAGCTACTTAGGAGGCTGAGGTGGAAGGATCACCTGAGCTCAGGAAGTCAAGGCTACAGTGAGCCGTGATCCCATTGCACCATTCACTCCAGCCTGGCCAACAAAATGAGACACTGTCTTTTTAAAAAAAAAAAAACAAACCCTGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGGTTGAGGTGAGCCAAGATCGCGCTAATGCACTCCAGCCTGGGCAAGAGTGAACCTCCGTCTCAAAAAAAAAAAGAAAAAAACAAACAAAAAAAGCACCTCGGCCGGGTGCAGTGGCTTACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGGGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGCACCTCAATTTCTTCTTCTATAAAATGGAGATTATAGTAGACCCTACCTCTCTGGGTTTTGGGAGGCTGAGTAAGATAACACATGTACAGGCATGTCTCAGAGATAATTCAGGTTTGGTTCCAGACCACTGCAATAGAGCCAGGATTTTTTTGTTTTGTTTGAGATATATTTTCGCTCCTGTCATGCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCCACCTCCTGGATTCAAGTGATTCTCCTTCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTGCCACCACGTCCTGCTAATTTTTGGATTTTTATTAGAGACGTGGTTTCACCATGTTGGCCAGGCTGTCTCGAACTCCTGACCTTAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGCATGAGCCACAGCACCCATCCTAGAGCCAGGATTTAAACCCAAGGATTTCAGCTCCAGAATCTGTGTCCTAACTGCTATAAGATTCAGCCTCTGGCTGAAGCCTCCAAGAATTGAGGAGGTCAGTTTTTTGTTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGCTCACGCCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGAGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTGTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCGCCCGGCCTTTCTTTCTTTCTTTCTTTCTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTCATTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCATCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCTACCACGCCCGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTCTCATCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCGGGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGAGATTAAAGGCATGAGCCACCGCACCCGGCCTGGGGAAGTCAGTTCTATTATTATTATTATTATTGTTATTATTATTATTATTTTTTTTTTTTGAGATGGAGTCTCGCACTGTCACCCGGGTTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAACAGGTGCCCACCACCACACTCGGCTAATTTTTTGTACTTTTGTTTTTATTTTTATTTTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGGTGGAGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCCGAGTAACTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTAATTTTAGTAGAAATGGGGTTTCTCCACGTAGGTCAGGCTGCTCTTGAACTCCTGACCTCAGGTGGTCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTTGCCAGGTTGGTCTTGAACTCCTGATCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACAGTGCCTGGTTGGTCAGTTCTATTATTATTCCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGAGTCTTGCTCTGTTGCCTAGGCCAGAGTGCAGTGGCCCAATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGTCTCAGCCTCCGGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACGGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCATAGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCATGTTCAAGTTATTCTCCTGCCTCAGCCTCCCGGGTACCTGGGACTACAGGTGCCTACCACGCCCAGCTGTTTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTCAATATGCTGGGATTACAGGTGTGAGTCGTTACTCCCAGCCATTATTATTCCTTTTTTTACAGATGAGAAAATGAAGTCTTGGTGACATAAAACCAGGGGCCCAAGGCTGCTAGGGAACCAGCCCTATTCGACTCTAGCATCCATGTTCTGAATCACAGTATAGTGAGGTGTCCAAGAAATTCCATGTTTGCATCTTTGGGGTGTGCTTCCAGGCACTTGAAGTTCTGGCTCACTGTCTGTGCCTCAGTGGACAAGTCTGAGAAGCCCCCAGGGTGTCTGTAACCCTGTGAGGGTGGGAAGCTTCTGAATCCGCCTCCCTCTTTGCCAGGCCCAGCTCTGACCCCAGGATGCTGTCTCAGTCCTCTGATGTCCCCTTTCCACAG
Seq C2 exon
GGCAGCACAGACTATTTCTTGAGCAGTGGTGACAAGATTCGATTCTTCTTTGAGAAAGGCGTTTTTGATGAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287:ENST00000372592:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.045 A=NA C2=0.008
Domain overlap (PFAM):

C1:
PF057218=PhyH=PU(36.6=98.1)
A:
NA
C2:
PF057218=PhyH=FE(17.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development